Detalhe da pesquisa
1.
Neurodegeneration with brain iron accumulation: a case series highlighting phenotypic and genotypic diversity in 20 Indian families.
Neurogenetics
; 24(2): 113-127, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36790591
2.
T2 olivary nuclei hyperintensities: A characteristic neuroimaging finding in FIG4-related leukoencephalopathy.
Am J Med Genet A
; 191(3): 864-869, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36529678
3.
Genetic heterogeneity of disorders with overgrowth and intellectual disability: Experience from a center in North India.
Am J Med Genet A
; 185(8): 2345-2355, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33942996
4.
Complex Hereditary Spastic Paraparesis Caused by de novo p.Arg480Ser in FAR1.
Indian J Pediatr
; 2023 Jun 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37335441
5.
Variable neurological phenotypes of homocystinuria caused by biallelic methylenetetrahydrofolate reductase variants.
Clin Dysmorphol
; 31(2): 59-65, 2022 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34845156
6.
Deciphering the molecular landscape of microcephaly in 87 Indian families by exome sequencing.
Eur J Med Genet
; 65(6): 104520, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35568357
7.
Pycnodysostosis: Novel Variants in CTSK and Occurrence of Giant Cell Tumor.
J Pediatr Genet
; 7(1): 9-13, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-29441215